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Evidence of a founder effect for the tissue-nonspecific alkaline phosphatase (TNSALP) gene E174K mutation in hypophosphatasia patients

✍ Scribed by Hérasse, Muriel; Spentchian, Marc; Taillandier, Agnès; Mornet, Etienne

Book ID: 110025278
Publisher: Nature Publishing Group
Year: 2002
Tongue: English
Weight: 58 KB
Volume: 10
Category: Article
ISSN: 1018-4813
DOI: 10.1038/sj.ejhg.5200857

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Hypophosphatasia is a rare inherited disorder characterized by defective bone mineralization and deficiency of serum and tissue liver/bone/kidney tissue alkaline phosphatase (L/B/K ALP) activity. We report here the characterization of tissue-nonspecific alkaline phosphatase (TNSALP) gene mutations i